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107656002: Congenital anomaly (morphologic abnormality)

    Status: retired, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    172092016 Congenital anomaly en Synonym Active Case insensitive SNOMED CT core
    593259012 Congenital anomaly (morphologic abnormality) en Fully specified name Active Case insensitive SNOMED CT core

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    Congenital anomaly Is a Morphologically abnormal structure false Inferred relationship Some
    Congenital anomaly Is a Developmental abnormality false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Congenital undergrowth of foot Associated morphology False Congenital anomaly Inferred relationship Some 1
    X-linked ichthyosis with steryl-sulfatase deficiency Associated morphology False Congenital anomaly Inferred relationship Some 1
    Anomalous portal vein termination Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital polyneuropathy Associated morphology False Congenital anomaly Inferred relationship Some 1
    18q partial trisomy syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Myopathy with tubular aggregates Associated morphology False Congenital anomaly Inferred relationship Some 1
    Preauricular sinus, pit or fistula Associated morphology False Congenital anomaly Inferred relationship Some 1
    Cutis laxa, recessive, type II Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other lower limb anomalies Associated morphology False Congenital anomaly Inferred relationship Some 1
    Lack of ossification of tarsal bone Associated morphology False Congenital anomaly Inferred relationship Some 1
    Vesicular appendix of ovary Associated morphology False Congenital anomaly Inferred relationship Some 1
    Single outlet ventriculoarterial connection Associated morphology False Congenital anomaly Inferred relationship Some 1
    Chimera 46, XX; 46, XY Associated morphology False Congenital anomaly Inferred relationship Some
    Myelocystocele of unspecified site Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital undergrowth of lower limb Associated morphology False Congenital anomaly Inferred relationship Some 1
    [X]Other specified sex chromosome abnormalities, female phenotype Associated morphology False Congenital anomaly Inferred relationship Some 1
    Deletion of chromosome NOS Associated morphology False Congenital anomaly Inferred relationship Some
    D - transposition of the great vessels Associated morphology False Congenital anomaly Inferred relationship Some 2
    Congenital anomaly of lacrimal system Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of ilium Associated morphology False Congenital anomaly Inferred relationship Some 1
    Webbed penis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other anomalies of larynx, trachea and bronchus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital absence of pancreas Associated morphology False Congenital anomaly Inferred relationship Some 2
    Other specified other correction of congenital deformity of foot Direct morphology False Congenital anomaly Inferred relationship Some 1
    Floppy infant syndrome Associated morphology False Congenital anomaly Inferred relationship Some 1
    Atrioventricular septal defect with ventricular component under superior bridging leaflet with chords at crest ventricular septum Associated morphology False Congenital anomaly Inferred relationship Some 1
    Autosomal deletion - mosaicism Associated morphology False Congenital anomaly Inferred relationship Some
    Dentin dysplasia, type II Associated morphology False Congenital anomaly Inferred relationship Some 2
    Atrioventricular septal defect - ventricular component Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of anterior chamber of eye Associated morphology False Congenital anomaly Inferred relationship Some 1
    Ring chromosome 4 syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Commissural fusion of pulmonary valve Associated morphology False Congenital anomaly Inferred relationship Some 1
    Diphallus Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other lower limb and pelvic girdle anomaly NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Mosaicism NOS Associated morphology False Congenital anomaly Inferred relationship Some
    Myopathy with cytoplasmic inclusions Associated morphology False Congenital anomaly Inferred relationship Some 1
    Double outlet from ventricle of indeterminate morphology Associated morphology False Congenital anomaly Inferred relationship Some 1
    Accessory adrenal cortex Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital vertical mandibular hypoplasia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Atrioventricular septal defect - ventricular component under superior bridging leaflet Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other sex chromosome anomaly Associated morphology False Congenital anomaly Inferred relationship Some
    8p partial monosomy syndrome Associated morphology False Congenital anomaly Inferred relationship Some
    Other anomalies of larynx, trachea or bronchus NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    22q partial trisomy Associated morphology False Congenital anomaly Inferred relationship Some
    Congenital anomaly of paw Associated morphology False Congenital anomaly Inferred relationship Some 1
    Right sided atrium connecting to right ventricle Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of larynx Associated morphology False Congenital anomaly Inferred relationship Some 1
    Neuronal heterotopia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Imperforate hymen Associated morphology False Congenital anomaly Inferred relationship Some 2
    Whole chromosome monosomy - mitotic nondisjunction mosaicism Associated morphology False Congenital anomaly Inferred relationship Some
    Myopathy with abnormality of histochemical fibre type Associated morphology False Congenital anomaly Inferred relationship Some 1
    Abnormal plantar creases Associated morphology False Congenital anomaly Inferred relationship Some 1
    Pit of optic disc Associated morphology False Congenital anomaly Inferred relationship Some 1
    Acyanotic congenital heart disease Associated morphology False Congenital anomaly Inferred relationship Some 1
    [X]Other specified congenital musculoskeletal deformities Associated morphology False Congenital anomaly Inferred relationship Some 1
    [X]Congenital malformations of the nervous system Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of parathyroid glands Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of superior vena cava Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of unspecified limb NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other specified anomalies of unspecified limb Associated morphology False Congenital anomaly Inferred relationship Some 1
    Absent left sided atrioventricular connection Associated morphology False Congenital anomaly Inferred relationship Some 1
    Tongue tie Associated morphology False Congenital anomaly Inferred relationship Some 1
    Oral lymphangioma Associated morphology False Congenital anomaly Inferred relationship Some 2
    Anomaly of chromosome pair 8 Associated morphology False Congenital anomaly Inferred relationship Some
    Constriction ring syndrome of lower limb Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of vulva Associated morphology False Congenital anomaly Inferred relationship Some 1
    Cerebrovascular system anomalies Associated morphology False Congenital anomaly Inferred relationship Some 1
    Abnormal infundibular morphology Associated morphology False Congenital anomaly Inferred relationship Some 1
    Imperforate vagina Associated morphology False Congenital anomaly Inferred relationship Some 1
    Type 2 lissencephaly Associated morphology False Congenital anomaly Inferred relationship Some 1
    Obstructive heart anomaly NEC Associated morphology False Congenital anomaly Inferred relationship Some 1
    Incomplete ossification of carpal bone Associated morphology False Congenital anomaly Inferred relationship Some 1
    Myxomatosis of cardiac valve Associated morphology False Congenital anomaly Inferred relationship Some 1
    [X]Other obstructive defects of renal pelvis and ureter Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other anomaly of trachea Associated morphology False Congenital anomaly Inferred relationship Some 2
    Anterior leaflet of mitral valve attached to septum Associated morphology False Congenital anomaly Inferred relationship Some 1
    Inherited disorder of keratinisation Associated morphology False Congenital anomaly Inferred relationship Some 1
    Duane's syndrome, type 3 Associated morphology False Congenital anomaly Inferred relationship Some 1
    Truncal valve dysplasia Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital undergrowth of whole of lower limb Associated morphology False Congenital anomaly Inferred relationship Some 1
    Left sided atrium connecting to left ventricle Associated morphology False Congenital anomaly Inferred relationship Some 1
    [X]Other balanced rearrangements and structural markers Associated morphology False Congenital anomaly Inferred relationship Some 1
    Myopathy with type I hypotrophy Associated morphology False Congenital anomaly Inferred relationship Some 1
    Fused mitral papillary muscles Associated morphology False Congenital anomaly Inferred relationship Some 1
    Duct of epoophoron Associated morphology False Congenital anomaly Inferred relationship Some 1
    Accessory tissue on truncal valve cusp Associated morphology False Congenital anomaly Inferred relationship Some 1
    Single umbilical artery Associated morphology False Congenital anomaly Inferred relationship Some 1
    Distal interphalangeal joint symphalangism Associated morphology False Congenital anomaly Inferred relationship Some 1
    Double inlet to ventricle of indeterminate morphology Associated morphology False Congenital anomaly Inferred relationship Some 1
    [X]Other atresia and stenosis of urethra and bladder neck Associated morphology False Congenital anomaly Inferred relationship Some 1
    Absent atrioventricular connection with straddling valve Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital anomaly of nasal turbinate Associated morphology False Congenital anomaly Inferred relationship Some 1
    20q partial trisomy Associated morphology False Congenital anomaly Inferred relationship Some
    Nagele's pelvis Associated morphology False Congenital anomaly Inferred relationship Some 1
    Other specified primary correction of congenital deformity of foot Direct morphology False Congenital anomaly Inferred relationship Some 1
    Congenital curly toes Associated morphology False Congenital anomaly Inferred relationship Some 1
    Precocious exfoliation of teeth due to root resorption following trauma Associated morphology False Congenital anomaly Inferred relationship Some 2
    Duplication of digestive system NOS Associated morphology False Congenital anomaly Inferred relationship Some 1
    [X]Other specified congenital malformations of kidney Associated morphology False Congenital anomaly Inferred relationship Some 1
    Congenital vesicoureteral reflux Associated morphology False Congenital anomaly Inferred relationship Some 1
    Spinal cord hypoplasia Associated morphology False Congenital anomaly Inferred relationship Some 1

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    Reference Sets

    Australian dialect reference set

    Concept inactivation indicator reference set

    Description inactivation indicator reference set

    POSSIBLY EQUIVALENT TO association reference set

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